Thalassaemia carrier screening programmes identified in the published literature are outlined in Table 1. They can be divided into programmes that are largely mandatory …
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Background: Carrier screening is the most effective means of controlling the prevalence of alpha-thalassemia. However, due to the differences in ethnic populations and genotypes, the distribution of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A 2 (HbA 2) varies in different regions.This study …
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For the US 2004–2008 data, the prevalence of 5.7 for beta- and alpha-thalassemia was based on a level 2 case definition (CLIA-certified laboratory result of …
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Thalassemia is a genetically inherited disorder that causes fewer hemoglobin and red blood cells in the body. Although thalassemia is not contagious, it cannot be cured and some types require a lifetime blood transfusion. However, the occurrence of thalassemia is prevented by increasing public knowledge and awareness followed by early detection …
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Introduction. Thalassemia is an inherited autosomal recessive disease characterized by impaired synthesis of hemoglobin protein chains. 1 A normal mature hemoglobin molecule (HbA) consists of two pairs of alpha and beta chains. Normal adult blood also contains ≤ 2.5% hemoglobin A2 (HbA2) (consisting of alpha and delta chains) …
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Indonesia is part of the 'Thalassemia Belt' region with the prevalence of β-thalassemia (β-thal) carriers ranging from 5.0 to 10.0%. ... Thalassemia in Indonesia: Screening Program, Diagnosis and Research. Ramdan Panigoro Department of Biomedical Sciences, Medical Genetics Research Center, Faculty of Medicine, ...
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Thalassemia is an inherited disease, meaning that at least one of the parents must be a carrier for the disease. It is caused by either a genetic mutation or a deletion of certain key gene fragments. Alpha …
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Newborn Screening Data in California. Skip directly to site content Skip directly to search. An official website of the United States government. ... S/S or S/β⁰ thalassemia, 29% were Hb S/C, and 8% were Hb S/β⁺ thalassemia. The remaining babies had other or unknown types of SCD.
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CDSS including two different types of systems for prenatal screening for thalassemia (expert system [ES] and four artificial intelligence [AI]-based CDSS) was built. 1,992 cases were used to train ...
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Thalassemia is classified as trait, minor, intermedia and major to describe how severe the condition is. These labels represent a range where having a thalassemia trait means that you may experience mild anemia symptoms or no symptoms at all. You may not need treatment. Thalassemia major is the most serious form and usually requires regular ...
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DOI: 10.1016/j.ijmedinf.2022.104866 Corpus ID: 252339054; Performance analysis of machine learning algorithms and screening formulae for β-thalassemia trait screening of Indian antenatal women
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There are several techniques for screening and diagnosing hemoglobin variants and thalassemia (Hartwell et al., 2005). Determining a patient's genetic makeup and characteristics by complete blood count (CBC) is the most reliable method of diagnosing thalassemia (Birndorf et al., 1996). However, these methods do not provide …
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The other 19 states do not have thalassemia screening recommendations beyond routine care. Twelve of these 19 states reported α-thalassemia trait with no additional follow-up, and 7 did not report α-thalassemia or carrier status at all. 13. Initial newborn screening in most states is by high-performance liquid chromatography …
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HPLC results showed that majority of the patients were beta thalassemics (47%) followed by alpha-thalassemics (15%). HbE disease was also found in 1% of the population. Interestingly, thalassemia and hemoglobinopathy interactions such as beta thalassemia with HbE interaction (2.2%) and alpha-beta thalassemia (0.4%) have also been reported.
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Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding clinical condition, requiring life-long care and follow-up, ideally in specialized centers and …
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Background: Currently, more than forty discrimination formulae based on red blood cell (RBC) parameters and some supervised machine learning algorithms (MLAs) have been recommended for β-thalassemia trait (BTT) screening. The present study was aimed to evaluate and compare the performance of 26 such formulae and 13 MLAs on antenatal …
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Findings highlight a profound lack of thalassemia awareness among migrants leading to apparent disinterest in thalassemia screening, misconceptions and stigma surrounding thalassemia, and negative attitudes towards termination of pregnancy. Promotion of public education and carrier screening is an optimal strategy for migrant …
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Newborn screening for thalassemia varies by state. HbSS, beta-thalassemia/HbS, and HbS/C are the only hemoglobinopathies considered to be core conditions on the U.S. Recommended Uniform Screening ...
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Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the ...
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Thalassemia is one of the most common genetic diseases and a major health threat worldwide. Accurate, efficient, and scalable analysis of next-generation sequencing …
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For screening of thalassemia, mean corpuscular volume (MCV) of less than 80 fL and/or mean corpuscular hemoglobin (MCH) value of less than 27 pg can be generally used as cutoff levels for a positive screening result . These cutoff levels are derived from 2 standard deviations of the normal distribution of MCV and MCH from the …
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Aims: This study attempted to apply modern machine learning algorithms to alpha-thalassemia screening data, and develop a cost-effective and time-saving ML tool which can accurately predict the ...
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Hemoglobin (Hb) disorders are among the most common monogenic diseases affecting nearly 7% of the world population. Among various Hb disorders, approximately 1.5% of the world population carries β-thalassemia (β-Thal), affecting 40,000 newborns every year. Early screening and a timely diagnosis are essential for β …
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In this article, we discuss the importance of carrier, prenatal, and newborn screening for thalassemia. We examine the rationale for who should be screened and …
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A new classifier for discriminating thalassemia and non-thalassemia microcytic anemia was generated via combination of exciting indices with machine-learning techniques, which developed a convenient tool for primary-care physicians when deferential diagnosis contains thalassesmia for the Taiwanese adult population. Expand
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In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 s …
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There are multiple methods to evaluate hemoglobinopathies such as thalassemia (decreased production of hemoglobin) and sickle cell disease (SCD; hemoglobin variants). A hemoglobinopathy evaluation is a group of tests that determines the presence and relative amounts of abnormal forms of hemoglobin to screen for and diagnose a …
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Background: Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems. Thailand's thalassemia prevention and control program has successfully utilized prenatal screening and diagnosis to …
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Screening. Both alpha and beta thalassemia is inherited in an autosomal recessive fashion. However, there are twice as many alpha genes as beta genes. If both parents have beta thalassemia trait (only one gene), the following outcomes for the baby exist: One in four chance of not having the disease and not carrying the gene
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Abstract The thalassemias are inherited quantitative disorders of hemoglobin synthesis with a significant worldwide burden, which result in a wide …
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